The D313Y variant in the GLA gene – no evidence of a pathogenic role in Fabry disease

Author:

Hasholt Lis1,Ballegaard Martin2,Bundgaard Henning3ORCID,Christiansen Michael4,Law Ian5,Lund Allan M.6,Norremolle Anne1,Krogh Rasmussen Ase7,Ravn Kirstine6,Tumer Zeynep1,Wibrand Flemming6,Feldt-Rasmussen Ulla7ORCID

Affiliation:

1. Section of Neurogenetics, Department of Cellular and Molecular Medicine, Copenhagen University, Denmark;

2. Department of Neurophysiology, Rigshospitalet, Copenhagen University, Denmark;

3. Unit for Inherited Cardiac Diseases, Department of Cardiology, Rigshospitalet, Copenhagen University, Denmark;

4. Department for Congenital Disorders, Statens Serum Institut, Denmark;

5. Departments of Nuclear Medicine, Rigshospitalet, Copenhagen University, Denmark;

6. Clinical Genetics, Rigshospitalet, Copenhagen University, Denmark;

7. Medical Endocrinology, Rigshospitalet, Copenhagen University, Denmark

Funder

Genzyme

Novo Nordic Foundation

Arvid Nilsson’s Fund

Publisher

Informa UK Limited

Subject

Clinical Biochemistry,General Medicine

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